{"title":"The HNF1B mutations and deletion associated with diabetes and their resulting diabetic phenotypes: a systematic review","authors":"","doi":"10.1007/s13410-024-01319-3","DOIUrl":null,"url":null,"abstract":"<h3>Abstract</h3> <span> <h3>Objective</h3> <p>Mutations or deletion in <em>HNF1B</em> gene has been found to be related to a special type of monogenetic diabetes (<em>HNF1B</em>-DM). However, the phenotypic features of <em>HNF1B</em>-DM and the related gene abnormalities remain unclear.</p> </span> <span> <h3>Methods</h3> <p>We systemically reviewed the literature associated with <em>HNF1B</em>-DM in PubMed, China National Knowledge Infrastructure (CNKI), and Wanfang databases. The mutations and clinical data of <em>HNF1B</em>-DM were recorded. The phenotypes between mutations and deletion in <em>HNF1B</em> were analyzed.</p> </span> <span> <h3>Results</h3> <p>In total, 261 eligible individuals were included. 64 mutations were reported in 134 patients, and another 127 patients carried a large deletion in <em>HNF1B</em> gene. The mutations were distributed throughout from exons 1 to 7, including missense, nonsense, frameshift, and splice site mutation. Body weight index (BMI) was available for 69 patients; 55 patients (79.7%) were normal or underweight. Of the 131 patients with available family history, 105 (80.2%) reported a family history of diabetes. Data on age at diagnosis of diabetes was recorded in 210 patients with a mean of 23.7 years. Estimated glomerular filtration rate was recorded in 52 patients with a median of 47.00 ml/min per 1.73 m<sup>2</sup>. Renal cysts were in 78.9%, pancreatic dysplasia in 78.6%, and hypomagnesemia in 64.3% of the patients. The patients with <em>HNF1B</em> deletion had different diabetic phenotypes from the patients with <em>HNF1B</em> point mutation.</p> </span> <span> <h3>Conclusions</h3> <p><em>HNF1B</em>-DM patients were with younger onset age, normal or low BMI, renal cyst, pancreatic dysplasia, and hypomagnesemia. The patients should be recommended for genetic testing to differentiate <em>HNF1BDM</em> from other young-onset diabetes earlier.</p> </span>","PeriodicalId":50328,"journal":{"name":"International Journal of Diabetes in Developing Countries","volume":null,"pages":null},"PeriodicalIF":0.7000,"publicationDate":"2024-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Diabetes in Developing Countries","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s13410-024-01319-3","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
引用次数: 0
Abstract
Objective
Mutations or deletion in HNF1B gene has been found to be related to a special type of monogenetic diabetes (HNF1B-DM). However, the phenotypic features of HNF1B-DM and the related gene abnormalities remain unclear.
Methods
We systemically reviewed the literature associated with HNF1B-DM in PubMed, China National Knowledge Infrastructure (CNKI), and Wanfang databases. The mutations and clinical data of HNF1B-DM were recorded. The phenotypes between mutations and deletion in HNF1B were analyzed.
Results
In total, 261 eligible individuals were included. 64 mutations were reported in 134 patients, and another 127 patients carried a large deletion in HNF1B gene. The mutations were distributed throughout from exons 1 to 7, including missense, nonsense, frameshift, and splice site mutation. Body weight index (BMI) was available for 69 patients; 55 patients (79.7%) were normal or underweight. Of the 131 patients with available family history, 105 (80.2%) reported a family history of diabetes. Data on age at diagnosis of diabetes was recorded in 210 patients with a mean of 23.7 years. Estimated glomerular filtration rate was recorded in 52 patients with a median of 47.00 ml/min per 1.73 m2. Renal cysts were in 78.9%, pancreatic dysplasia in 78.6%, and hypomagnesemia in 64.3% of the patients. The patients with HNF1B deletion had different diabetic phenotypes from the patients with HNF1B point mutation.
Conclusions
HNF1B-DM patients were with younger onset age, normal or low BMI, renal cyst, pancreatic dysplasia, and hypomagnesemia. The patients should be recommended for genetic testing to differentiate HNF1BDM from other young-onset diabetes earlier.
期刊介绍:
International Journal of Diabetes in Developing Countries is the official journal of Research Society for the Study of Diabetes in India. This is a peer reviewed journal and targets a readership consisting of clinicians, research workers, paramedical personnel, nutritionists and health care personnel working in the field of diabetes. Original research articles focusing on clinical and patient care issues including newer therapies and technologies as well as basic science issues in this field are considered for publication in the journal. Systematic reviews of interest to the above group of readers are also accepted.